E20K (p.Glu20Lys) variant of ATP6V0A4 (Q9HBG4)
E20K (p.Glu20Lys) in ATP6V0A4 (Q9HBG4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
E20K (p.Glu20Lys) variant details
- p.Glu20Lys
- ExAC rs755114471
- gnomAD rs755114471
- Missense
- Variant Prioritization Score for Impact Estimate 0.853
- REVEL 0.83
- ESM-1b 1.00
- AlphaMissense 0.87
- MetaLR 0.88
- MetaSVM 1.00
- CADD 29.40
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available